Canonical Allele Identifier: CA339010198
Gene: FUCA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.24194623A>G (hg19) chr1:g.23868133A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868133A>G , CM000663.2:g.23868133A>G GRCh38
NC_000001.10:g.24194623A>G , CM000663.1:g.24194623A>G GRCh37
NC_000001.9:g.24067210A>G NCBI36
NG_013346.1:g.5237T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.154T>C MANE Select ENSP00000363603.3:p.Trp52Arg
ENST00000374479.3:c.154T>C ENSP00000363603.3:p.Trp52Arg
NM_000147.4:c.154T>C NP_000138.2:p.Trp52Arg
XM_005245821.1:c.-396T>C XP_005245878.1:n.-396T>C
XM_005245821.3:c.-396T>C XP_005245878.1:n.-396T>C
NM_000147.5:c.154T>C MANE Select NP_000138.2:p.Trp52Arg
NR_174379.1:n.158T>C
NR_174380.1:n.158T>C
NR_174381.1:n.158T>C
NR_174382.1:n.158T>C
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